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WO2005086750A3 - Prohormone convertase 1 mutation associated with obesity - Google Patents

Prohormone convertase 1 mutation associated with obesity Download PDF

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Publication number
WO2005086750A3
WO2005086750A3 PCT/US2005/007300 US2005007300W WO2005086750A3 WO 2005086750 A3 WO2005086750 A3 WO 2005086750A3 US 2005007300 W US2005007300 W US 2005007300W WO 2005086750 A3 WO2005086750 A3 WO 2005086750A3
Authority
WO
WIPO (PCT)
Prior art keywords
mutant
obesity
prohormone convertase
mutation associated
gene
Prior art date
Application number
PCT/US2005/007300
Other languages
French (fr)
Other versions
WO2005086750A2 (en
Inventor
Nicholas Gekakis
David Lloyd
Original Assignee
Irm Llc
Nicholas Gekakis
David Lloyd
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Irm Llc, Nicholas Gekakis, David Lloyd filed Critical Irm Llc
Priority to US10/591,885 priority Critical patent/US20080250516A1/en
Publication of WO2005086750A2 publication Critical patent/WO2005086750A2/en
Publication of WO2005086750A3 publication Critical patent/WO2005086750A3/en

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/48—Hydrolases (3) acting on peptide bonds (3.4)
    • C12N9/50—Proteinases, e.g. Endopeptidases (3.4.21-3.4.25)
    • C12N9/64—Proteinases, e.g. Endopeptidases (3.4.21-3.4.25) derived from animal tissue
    • C12N9/6421—Proteinases, e.g. Endopeptidases (3.4.21-3.4.25) derived from animal tissue from mammals
    • C12N9/6424—Serine endopeptidases (3.4.21)
    • C12N9/6454—Dibasic site splicing serine proteases, e.g. kexin (3.4.21.61); furin (3.4.21.75) and other proprotein convertases

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)

Abstract

The invention provides novel prohormone convertase 1 mutants that have at least partially defective enzymatic activities. These mutant PC1 enzymes are defective in their autocatalytic activities, but appear to have normal ability in processing proGHRH to its mature form. Also provided in the invention are non-human animals that harbor such a mutant PC1 gene. These non-human animals are obese due to the mutant PC1 gene.
PCT/US2005/007300 2004-03-06 2005-03-07 Prohormone convertase 1 mutation associated with obesity WO2005086750A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
US10/591,885 US20080250516A1 (en) 2004-03-06 2005-03-07 Prohormone Convertase 1 Mutation Associated with Obesity

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US55061104P 2004-03-06 2004-03-06
US60/550,611 2004-03-06

Publications (2)

Publication Number Publication Date
WO2005086750A2 WO2005086750A2 (en) 2005-09-22
WO2005086750A3 true WO2005086750A3 (en) 2007-01-11

Family

ID=34976125

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2005/007300 WO2005086750A2 (en) 2004-03-06 2005-03-07 Prohormone convertase 1 mutation associated with obesity

Country Status (2)

Country Link
US (1) US20080250516A1 (en)
WO (1) WO2005086750A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES2847126T3 (en) 2016-06-03 2021-07-30 Univ Columbia PDE4 inhibitors for the treatment of Prader-Willi syndrome

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030031654A1 (en) * 1991-12-06 2003-02-13 Genentech, Inc. Prohormone convertase transformed cells and polypeptide synthesis

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5464764A (en) * 1989-08-22 1995-11-07 University Of Utah Research Foundation Positive-negative selection methods and vectors
US5824837A (en) * 1993-07-22 1998-10-20 Merck & Co., Inc. Expression of human interleukin-1β in a transgenic animal

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030031654A1 (en) * 1991-12-06 2003-02-13 Genentech, Inc. Prohormone convertase transformed cells and polypeptide synthesis

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
CHEN D. AND GARG A.: "Monogenic disorders and body fat distribution", JOURNAL OF LIPID RESEARCH, vol. 40, 1999, pages 1735 - 1746, XP003005163 *
GOODMAN L.J. AND GORMAN C.M.: "Autoproteolytic Activation of the Mouse Prohormone Convertase MPC1", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 201, no. 2, 15 June 1994 (1994-06-15), pages 795 - 804, XP003005165 *
JACKSON R.S. ET AL.: "Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene", NATURE GENETICS, vol. 16, no. 3, July 1997 (1997-07-01), pages 303 - 306, XP009046903 *
ZHOU Y. ET AL.: "Mutational Analysis of PC1 (SPC3) in PC12 Cells", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 270, no. 42, October 1995 (1995-10-01), pages 24702 - 24706, XP003005164 *

Also Published As

Publication number Publication date
WO2005086750A2 (en) 2005-09-22
US20080250516A1 (en) 2008-10-09

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